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PubMed:1761570 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-133 Sentence denotes Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency.
T2 134-252 Sentence denotes A donor splice site mutation was found in the lipoprotein lipase (LPL) gene of a patient with familial LPL deficiency.
T3 253-335 Sentence denotes The mutation, a G----A substitution, occurred at the first nucleotide of intron 2.
T4 336-440 Sentence denotes Northern blot analysis of total RNA from the patient showed strikingly low levels of LPL-specific mRNAs.
T5 441-523 Sentence denotes Using the polymerase chain reaction, the LPL mRNA splicing was analyzed in detail.
T6 524-710 Sentence denotes The results demonstrated that no normal splicing occurred at the authentic splice site; rather a cryptic splice site 18 bases upstream from the mutation site was preferentially utilized.
T7 711-864 Sentence denotes Although the resulting alteration in mRNA was a minute in-frame 18-base deletion, the amount of the abnormal transcript was only 1/12 that of the normal.
T8 865-1004 Sentence denotes In addition to this major cryptic splice site, we also identified multiple minor sites which were utilized at extremely lower efficiencies.
T9 1005-1141 Sentence denotes Unexpectedly, one of these minor sites was also used as an alternative splice site in the normal subject at a comparably low efficiency.
T10 1142-1395 Sentence denotes The sequences of these minor cryptic sites possessed many of the characteristics common to those of other normal splice sites, indicating that even such minor sites should have also been selected according to the general rules for splice site selection.
T11 1396-1542 Sentence denotes These results demonstrate that upon mutation, a broad spectrum of cryptic splice sites is activated in vivo at the sites' respective efficiencies.
T1 0-133 Sentence denotes Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency.
T2 134-252 Sentence denotes A donor splice site mutation was found in the lipoprotein lipase (LPL) gene of a patient with familial LPL deficiency.
T3 253-335 Sentence denotes The mutation, a G----A substitution, occurred at the first nucleotide of intron 2.
T4 336-440 Sentence denotes Northern blot analysis of total RNA from the patient showed strikingly low levels of LPL-specific mRNAs.
T5 441-523 Sentence denotes Using the polymerase chain reaction, the LPL mRNA splicing was analyzed in detail.
T6 524-710 Sentence denotes The results demonstrated that no normal splicing occurred at the authentic splice site; rather a cryptic splice site 18 bases upstream from the mutation site was preferentially utilized.
T7 711-864 Sentence denotes Although the resulting alteration in mRNA was a minute in-frame 18-base deletion, the amount of the abnormal transcript was only 1/12 that of the normal.
T8 865-1004 Sentence denotes In addition to this major cryptic splice site, we also identified multiple minor sites which were utilized at extremely lower efficiencies.
T9 1005-1141 Sentence denotes Unexpectedly, one of these minor sites was also used as an alternative splice site in the normal subject at a comparably low efficiency.
T10 1142-1395 Sentence denotes The sequences of these minor cryptic sites possessed many of the characteristics common to those of other normal splice sites, indicating that even such minor sites should have also been selected according to the general rules for splice site selection.
T11 1396-1542 Sentence denotes These results demonstrate that upon mutation, a broad spectrum of cryptic splice sites is activated in vivo at the sites' respective efficiencies.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 180-198 gene:4023 denotes lipoprotein lipase
T1 228-251 disease:C0023817 denotes familial LPL deficiency
T2 200-203 gene:4023 denotes LPL
T3 228-251 disease:C0023817 denotes familial LPL deficiency
R1 T0 T1 associated_with lipoprotein lipase,familial LPL deficiency
R2 T2 T3 associated_with LPL,familial LPL deficiency

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1761570-1#46#64#gene4023 180-198 gene4023 denotes lipoprotein lipase
1761570-1#66#69#gene4023 200-203 gene4023 denotes LPL
1761570-1#94#117#diseaseC0023817 228-251 diseaseC0023817 denotes familial LPL deficiency
46#64#gene402394#117#diseaseC0023817 1761570-1#46#64#gene4023 1761570-1#94#117#diseaseC0023817 associated_with lipoprotein lipase,familial LPL deficiency
66#69#gene402394#117#diseaseC0023817 1761570-1#66#69#gene4023 1761570-1#94#117#diseaseC0023817 associated_with LPL,familial LPL deficiency

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 94-132 Disease denotes familial lipoprotein lipase deficiency http://purl.obolibrary.org/obo/MONDO_0009387
T2 228-251 Disease denotes familial LPL deficiency http://purl.obolibrary.org/obo/MONDO_0009387

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 215-222 OrganismTaxon denotes patient 9606
T2 381-388 OrganismTaxon denotes patient 9606